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[Analysis of lysosomal enzyme activity and genetic variants in a child with late-onset Pompe disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2023

He Tiantian, Jiang Jieni, Xiong Yueyue, Yu Dan, Zhang Xuemei

Abstract excerpt

OBJECTIVE: To explore the clinical features, lysosomal enzymatic [acid α-glucosidase (GAA)] activities and genetic variants in a child with late-onset Pompe disease (LOPD). METHODS: Clinical data of a child who had presented at the Genetic Counseling Clinic of West China Second University Hospital in August 2020 was retrospectively analyzed. Blood samples were collected from the patient and her parents for the...

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PMID: 37212008
DOI: 10.3760/cma.j.cn511374-20220805-00525

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